1. Gene
  2. SEC14L2 - SEC14 like lipid binding 2 Gene

SEC14L2 - SEC14 like lipid binding 2 Gene

中文名称:SEC14 类脂质结合 2

种属: Homo sapiens

同用名: SPF; TAP; TAP1; C22orf6

基因 ID: 23541 | 基因类型: protein coding

关于 SEC14L2

Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:30,397,018-30,425,303 (from NCBI)

This gene has 17 transcripts (splice variants), 201 orthologues and 6 paralogues. Biased expression in liver (RPKM 34.2), prostate (RPKM 20.5) and 7 other tissues.

功能概要

该基因编码一种胞质蛋白,属于脂质结合蛋白家族,包括 Sec14p、α-生育酚转移蛋白和细胞视黄醇结合蛋白。编码的蛋白质刺激角鲨烯单加氧酶,角鲨烯单加氧酶是胆固醇生物合成途径中的下游酶。已经为该基因鉴定了编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2008 年 10 月]

This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstream Enzyme in the Cholesterol biosynthetic pathway. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]

SEC14L2 基因产物(4)

mRNA Protein Name
NM_001204204.3 NP_001191133.1 SEC14-like protein 2 isoform 3
NM_001291932.2 NP_001278861.1 SEC14-like protein 2 isoform 4
NM_012429.5 NP_036561.1 SEC14-like protein 2 isoform 1
NM_033382.3 NP_203740.1 SEC14-like protein 2 isoform 2

SEC14L2 蛋白结构

CRAL_TRIO_N

CRAL_TRIO_N: CRAL/TRIO, N-terminal domain (13 - 58)

CRAL_TRIO

CRAL_TRIO: CRAL/TRIO domain (79 - 244)

  • 0
  • 100
  • 200
  • 300
  • 403 a.a.
蛋白主名 其他名称

SEC14-like protein 2

alpha-tocopherol-associated protein

关联疾病

疾病名称 别名
Plica Syndrome

Synovitis

Ataxia With Vitamin E Deficiency

Ataxia With Isolated Vitamin E Deficiency

AVED

Familial Isolated Vitamin E Deficiency

Friedreich-Like Ataxia

Familial Isolated Deficiency Of Vitamin E

Isolated Vitamin E Deficiency

Ataxia, Friedreich-Like, With Selective Vitamin E Deficiency

Vitamin E Deficiency, Familial Isolated

Ved

Friedreich-Like Ataxia With Selective Vitamin E Deficiency

Five

Friedreich Ataxia Phenotype With Selective Vitamin E Deficiency

Vitamin E Familial Isolated, Deficiency Of

Ataxia Friedreich-Like With Selective Vitamin E Deficiency

Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To

Ornithine Carbamoyltransferase Deficiency

Ornithine Transcarbamylase Deficiency

Otc Deficiency

Ornithine Carbamoyltransferase Deficiency Disease

OTCD

Deficiency Of Citrulline Phosphorylase

Oct Deficiency

Hyperammonemia Due To Ornithine Carbamoyltransferase Deficiency

Deficiency, Ornithine Carbamoyltransferase

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Felis catus SEC14L2 VGNC VGNC:107721
Macaca mulatta SEC14L2 VGNC VGNC:108034
Mus musculus SEC14L2 MGD MGI:1915065
Rattus norvegicus SEC14L2 RGD RGD:621779